Canonical Allele Identifier: PA2827013322
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12398
ClinVar RCV Id: RCV000013207 RCV000042452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu517Arg
CA016832
NM_001318831.2:c.1550T>G